Canonical Allele Identifier: CA2677951623
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271547-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271547C>T , CM000668.2:g.31271547C>T GRCh38
NC_000006.11:g.31239324C>T , CM000668.1:g.31239324C>T GRCh37
NC_000006.10:g.31347303C>T NCBI36
NG_029422.2:g.5585G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.343+52G>A MANE Select ENSP00000365402.5:n.343+52G>A
ENST00000376228.9:c.343+52G>A ENSP00000365402.5:n.343+52G>A
ENST00000376237.8:c.343+52G>A ENSP00000365412.4:n.343+52G>A
ENST00000383329.7:c.343+52G>A ENSP00000372819.3:n.343+52G>A
ENST00000415537.1:c.341+52G>A
ENST00000484378.1:n.414G>A
ENST00000487245.5:n.504G>A
ENST00000495835.1:n.532+52G>A
NM_002117.5:c.343+52G>A NP_002108.4:n.343+52G>A
NM_002117.6:c.343+52G>A MANE Select NP_002108.4:n.343+52G>A